Variant (rsID / SNP)

rs12768894

rs12768894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCLRE1C. Location: chromosome 10, position 14,974,905. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DCLRE1CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:14974905
Cytoband: 10p13
HGVS: NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg)
Allele change: Missense_H123R

Associated conditions / phenotypes

Histiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.